BACKGROUND: Endocrine autoimmune disorders share genetic susceptibility loci, causing a disordered T-cell activation and homeostasis (HLA class II genes, CTLA-4). Recent studies showed a genetic variation within the PTPN22 gene to be an additional risk factor. MATERIALS AND METHODS: Patients with type 1 diabetes (n = 220), Hashimoto's thyroiditis (n = 94), Addison's disease (n = 121) and healthy controls (n = 239) were genotyped for the gene polymorphism PTPN22 1858 C/T. RESULTS: Our study confirms a significant association between allelic variation of the PTPN22 1858 C/T polymorphism and type 1 diabetes mellitus (T1D). 1858T was observed more frequently in T1D patients (19.3% vs 11.3%, P = 0.0009; odds ratio for allele T = 1.88, 95% confidence interval [1.3-2.7]). Furthermore, we found a strong association in female patients with T1D (P = 0.0003), whereas there was no significant difference between male patients with type 1 diabetes and male controls. No significant difference was observed between the distribution of PTPN22 C/T in patients with Hashimoto's thyroiditis or Addison's disease and healthy controls. CONCLUSION: The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females.
BACKGROUND: Endocrine autoimmune disorders share genetic susceptibility loci, causing a disordered T-cell activation and homeostasis (HLA class II genes, CTLA-4). Recent studies showed a genetic variation within the PTPN22 gene to be an additional risk factor. MATERIALS AND METHODS:Patients with type 1 diabetes (n = 220), Hashimoto's thyroiditis (n = 94), Addison's disease (n = 121) and healthy controls (n = 239) were genotyped for the gene polymorphism PTPN221858 C/T. RESULTS: Our study confirms a significant association between allelic variation of the PTPN221858 C/T polymorphism and type 1 diabetes mellitus (T1D). 1858T was observed more frequently in T1D patients (19.3% vs 11.3%, P = 0.0009; odds ratio for allele T = 1.88, 95% confidence interval [1.3-2.7]). Furthermore, we found a strong association in female patients with T1D (P = 0.0003), whereas there was no significant difference between male patients with type 1 diabetes and male controls. No significant difference was observed between the distribution of PTPN22 C/T in patients with Hashimoto's thyroiditis or Addison's disease and healthy controls. CONCLUSION: The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females.
Authors: M Maziarz; M Janer; J C Roach; W Hagopian; J P Palmer; K Deutsch; C B Sanjeevi; I Kockum; N Breslow; A Lernmark Journal: Genes Immun Date: 2010-05-06 Impact factor: 2.676
Authors: M Pertovaara; A Raitala; M Juonala; M Kähönen; T Lehtimäki; J S A Viikari; O T Raitakari; M Hurme Journal: Clin Exp Immunol Date: 2007-02 Impact factor: 4.330
Authors: A Blasetti; C Di Giulio; S Tumini; M Provenzano; D Rapino; L Comegna; G Prezioso; R Chiuri; S Franchini; F Chiarelli; L Stuppia Journal: Pharmacogenomics J Date: 2016-02-23 Impact factor: 3.550
Authors: Henning R Gockel; Johannes Schumacher; Ines Gockel; Hauke Lang; Thomas Haaf; Markus M Nöthen Journal: Hum Genet Date: 2010-08-11 Impact factor: 4.132
Authors: Maria Justina B Villano; Amanda K Huber; David A Greenberg; Brian K Golden; Erlinda Concepcion; Yaron Tomer Journal: J Clin Endocrinol Metab Date: 2009-01-13 Impact factor: 5.958
Authors: Manabu Araki; Denise Chung; Sue Liu; Daniel B Rainbow; Giselle Chamberlain; Valerie Garner; Kara M D Hunter; Lalitha Vijayakrishnan; Laurence B Peterson; Mohamed Oukka; Arlene H Sharpe; Raymond Sobel; Vijay K Kuchroo; Linda S Wicker Journal: J Immunol Date: 2009-09-25 Impact factor: 5.422